Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | 27545680 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | 27545680 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | 27545680 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | 27545676 | 2016 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | 27545676 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. | 27545680 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | 27545676 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | 27545676 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Accurate splicing of HDAC6 pre-mRNA requires SON. | 25782155 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Accurate splicing of HDAC6 pre-mRNA requires SON. | 25782155 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Accurate splicing of HDAC6 pre-mRNA requires SON. | 25782155 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Accurate splicing of HDAC6 pre-mRNA requires SON. | 25782155 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. | 23424103 | 2013 |